A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.

ABSTRACT:

Background

The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died in the early postnatal period.

Methods

We performed whole-exome sequencing (WES) and mutation analysis of NDUFAF5 to obtain genetic data on the patient and describe the clinical and genetic characteristics.

Results

The proband was a 2-month-old male infant who suffered from recurrent vomiting and persistent seizure and died at 2 months of age after early medical support and treatment. His parents reported the unexplained death of the infant's older brother at 1 year of age. WES of the patient's DNA revealed c.357C>G a

SUBMITTER: Wen Y 

PROVIDER: S-EPMC8801144 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature